Flickr, Tonio VegaAn international consortium of scientists known as the 1000 Genomes Project has published a long-awaited map of variation in the human genome, cataloging the subtle differences that shape our bodies and influence our risk of disease. The results, published today (31 October) in Nature, were derived from the genome sequences of 1,092 volunteers hailing from 14 populations in Europe, East Asia, Africa, and the Americas. They should help scientists more efficiently hunt for the genetic causes of disease, by comparing mutations in a patient’s genome against those seen in his own country or ethnic group.
"The 1000 genomes project is the backbone of our understanding for human variation,” said Ewan Birney from the European Bioinformatics Institute, who is not part of the consortium. “Both the data and the methods will be reused many times in the forthcoming decade.”
The 1000 Genomes Project takes advantage of the dramatically falling cost of genome sequencing—and even contributed to the continued reduction of those costs by increasing demand. The pilot phase, published in 2010, had already documented most of the common variants found in more than 5 percent of people. In the new study, the researchers focused on the world’s rarer variants, by sequencing every nucleotide in the volunteers’ exome about 50 to 100 times over. (The rest of participants’ DNA was also sequenced, ...
